Retinitis pigmentosa in Spain

  title={Retinitis pigmentosa in Spain},
  author={Carmen Ayuso and Blanca Garc{\'i}a‐Sandoval and Carmen N{\'a}jera and Diana Valverde and Miguel Carballo and Guillermo Anti{\~n}olo},
  journal={Clinical Genetics},
Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epide‐miological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non‐syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20… 
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
A customized targeted gene panel consisting of 68 IRD genes for the molecular characterization of 106 sRP cases shows the high efficiency of this genomic approach even for clinically ambiguous cases.
Retinitis pigmentosa and allied conditions today: a paradigm of translational research
Current knowledge on genes that have been identified to be responsible for retinitis pigmentosa are summarized, the involvement of these genes in the different forms of the disorder, the role of the proteins encoded by them in retinal function, the utility of genotyping, and current efforts to develop novel therapies are summarized.
Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
The hypothesis of EYS being the first prevalent gene in arRP has been reinforced and the identification of 73 sequence variations in EYS is reported, confirming a major involvement of Eys in the pathogenesis of arRP in the Spanish population.
Animal models and different therapies for treatment of retinitis pigmentosa.
The selected animal models of RP are described and their phenotypes and genotypes, as well as the advantages and disadvantages of the use of each animal, and different therapeutic strategies being studied worldwide are looked at.
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease
It is unlikely that these genes and loci reported as the cause of ARRP account for a considerable proportion of cases, as no other disease‐causing mutation was observed in the other genes analysed, nor was significant evidence found for the involvement of the loci at 6p or 1q.
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
Direct analyses of rhodopsin, the alpha and gamma subunits of rod cGMP-phosphodiesterase, periferin/RDS, rod outer segment membrane protein, recoverin, guanilate cyclase activating protein, S antigen, interstitial retinol binding protein, and NRL have failed to detect any disease causing mutation in non-syndromic ARRP Spanish families, indicating that genes other than these may be involved in the remaining families.
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families, and Retinol Dehydrogenase 12 was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A and Ceramide Kinase-Like were the mostrequently mutated genes in the typical RP group.
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Results demonstrate the potential of the panel-based NGS strategy in RP diagnosis, with seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified.
Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs
A gene expressed in the retina, FAM46A, mapped within the RP25 locus, and computational data revealed its involvement in retinal signalling pathways, and molecular evaluation of this gene as a good candidate in arRP families linked to theRP25 interval was performed.


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